ClinVar Miner

List of variants in gene MPZ reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp) rs200151353 0.00051
NM_000530.8(MPZ):c.641G>A (p.Arg214Gln) rs147718043 0.00023
NM_000530.8(MPZ):c.*52G>A rs774701563 0.00014
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679 0.00005
NM_000530.8(MPZ):c.428C>T (p.Thr143Met) rs750724650 0.00004
NM_000530.8(MPZ):c.547T>C (p.Trp183Arg) rs753107323 0.00002
NM_000530.8(MPZ):c.731G>T (p.Arg244Leu) rs749722729 0.00002
NM_000530.8(MPZ):c.186C>G (p.Ile62Met) rs121913605 0.00001
NM_000530.8(MPZ):c.199C>T (p.Arg67Cys) rs775361544 0.00001
NM_000530.8(MPZ):c.200G>A (p.Arg67His) rs201720099 0.00001
NM_000530.8(MPZ):c.511T>A (p.Leu171Met) rs768385737 0.00001
NM_000530.8(MPZ):c.542A>G (p.Tyr181Cys) rs372051998 0.00001
NM_000530.8(MPZ):c.73T>A (p.Ser25Thr) rs997633417 0.00001
NM_000530.8(MPZ):c.91G>A (p.Val31Met) rs1038909167 0.00001
NM_000530.8(MPZ):c.117T>A (p.His39Gln)
NM_000530.8(MPZ):c.161C>G (p.Ser54Cys) rs1571820092
NM_000530.8(MPZ):c.176C>T (p.Ser59Leu) rs879254297
NM_000530.8(MPZ):c.223G>T (p.Asp75Tyr) rs2102259788
NM_000530.8(MPZ):c.231T>G (p.Ile77Met) rs1185426826
NM_000530.8(MPZ):c.236T>C (p.Ile79Thr) rs1558154256
NM_000530.8(MPZ):c.260C>A (p.Pro87His) rs1571819314
NM_000530.8(MPZ):c.271G>A (p.Glu91Lys) rs1383238492
NM_000530.8(MPZ):c.284T>C (p.Phe95Ser) rs1057519159
NM_000530.8(MPZ):c.293G>T (p.Arg98Leu) rs121913589
NM_000530.8(MPZ):c.312C>A (p.Asp104Glu) rs1670265812
NM_000530.8(MPZ):c.317G>C (p.Arg106Pro) rs145039212
NM_000530.8(MPZ):c.337G>T (p.Val113Phe) rs281865126
NM_000530.8(MPZ):c.341T>C (p.Ile114Thr) rs267607241
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser) rs281865130
NM_000530.8(MPZ):c.349C>A (p.Leu117Ile)
NM_000530.8(MPZ):c.358A>G (p.Ser120Gly)
NM_000530.8(MPZ):c.362A>C (p.Asp121Ala) rs1571818953
NM_000530.8(MPZ):c.366T>G (p.Asn122Lys) rs1064797124
NM_000530.8(MPZ):c.388A>G (p.Lys130Glu)
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) rs281865127
NM_000530.8(MPZ):c.431T>A (p.Leu144Gln)
NM_000530.8(MPZ):c.451C>A (p.Pro151Thr) rs754068936
NM_000530.8(MPZ):c.464G>T (p.Gly155Val) rs879254028
NM_000530.8(MPZ):c.585-7_585-5del rs770501358
NM_000530.8(MPZ):c.595A>G (p.Lys199Glu) rs879254142
NM_000530.8(MPZ):c.610A>G (p.Lys204Glu) rs1064796625
NM_000530.8(MPZ):c.637G>A (p.Gly213Arg) rs202176679
NM_000530.8(MPZ):c.646-3C>A rs750756212
NM_000530.8(MPZ):c.646-7C>G rs377495735
NM_000530.8(MPZ):c.675C>A (p.His225Gln) rs2102257271
NM_000530.8(MPZ):c.68-3C>A rs1182729605
NM_000530.8(MPZ):c.691G>C (p.Ala231Pro) rs1471261466
NM_000530.8(MPZ):c.692C>A (p.Ala231Asp) rs2102257225
NM_000530.8(MPZ):c.700G>T (p.Glu234Ter) rs1670224976
NM_000530.8(MPZ):c.80C>G (p.Ala27Gly)
NM_000530.8(MPZ):c.86C>T (p.Ala29Val) rs1553259824
NM_000530.8(MPZ):c.94G>T (p.Val32Phe) rs1034932344

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